Varaico: Literature-Extracted Genetic Variants

EPAS1

566 papers

RefSeq Summary

This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain pr...

Pfam Domains

bHLH_HIF1Aaa 1–73UCSCHypoxia-inducible factor 1-alpha bHLH domain

PASaa 86–183UCSCPAS fold

PAS_11aa 241–349UCSCPAS domain

HIF-1aa 517–549UCSCHypoxia-inducible factor-1

HIF-1a_CTADaa 833–869UCSCHIF-1 alpha C terminal transactivation domain

Gene Aliases

HGNC Name

endothelial PAS domain protein 1

HGNC Alias Symbols

MOP2; PASD2; HIF2A; bHLHe73

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001430.5

p.C620_C621del2

c.1858_1862del6

Surrounding Variants

2 papers

NM_001430.5

p.C620Y

c.1859G>A

1 paper

NM_001430.5

p.S616F

c.1847C>T

1 paper

NM_001430.5

p.S616delins

c.1847_1848delinsTT

1 paper

NM_001430.5

p.A615V

c.1844C>T

1 paper

NM_001430.5

p.A624T

c.1870G>A

1 paper

NM_001430.5

p.A624D

c.1871C>A

1 paper

NM_001430.5

p.G612R

c.1834G>A

1 paper

NM_001430.5

p.G612R

c.1834G>C

1 paper

NM_001430.5

p.D610N

c.1828G>A

1 paper

NM_001430.5

p.F609S

c.1826T>C

1 paper

NM_001430.5

p.F608L

c.1824C>A

1 paper

NM_001430.5

p.F608L

c.1824C>G